| Monarch Ortholog Phenotypes
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Human (43 sources):
Abnormal hair morphology,
Abnormal helix morphology,
Abnormality of the dentition,
Abnormal nail morphology,
Aplasia/Hypoplasia of the eyebrow,
Chronic otitis media,
Cognitive impairment,
Congenital ichthyosiform erythroderma,
Congenital nonbullous ichthyosiform erythroderma,
Corneal erosion,
Dehydration,
Dry skin,
Ectropion,
Epidermal acanthosis,
Erythema,
Erythroderma,
Everted lower lip vermilion,
External genital hypoplasia,
Failure to thrive,
Gangrene,
Growth delay,
Hearing impairment,
Hypergranulosis,
Hyperkeratosis,
Hypohidrosis,
Ichthyosis,
Intellectual disability,
Keratitis,
Lack of skin elasticity,
Limitation of joint mobility,
obsolete Hypotrichosis,
Palmoplantar keratoderma,
Paralysis,
Pruritus,
Recurrent respiratory infections,
Renal insufficiency,
Sepsis,
Short finger,
Short stature,
Short toe,
Small nail,
Sparse hair,
Thin nail
[+]
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Mouse (7 sources):
abnormal epidermis stratum corneum morphology,
abnormal epidermis stratum granulosum morphology,
abnormal lipid level,
abnormal skin condition,
impaired skin barrier function,
neonatal lethality, complete penetrance,
shiny skin
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View all ortholog results at Monarch
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.